(Q28185681)

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Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation

scientific article (publication date: 27 July 2001)

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scholarly article

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6 November 2019

Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation (English)

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6 November 2019

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6 November 2019

Vincent R Harley

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6 November 2019

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Preiss S

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6 November 2019

Argentaro A

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6 November 2019

Clayton A

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6 November 2019

John A

4

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6 November 2019

Nagai T

7

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6 November 2019

Schafer AJ

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25 April 2001

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6 November 2019

Journal of Biological Chemistry

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6 November 2019

276

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6 November 2019

27864-27872

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6 November 2019

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Campomelic dysplasia: evidence of autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Mutations inSRY andSOX9: Testis-determining genes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Sox9 expression during gonadal development implies a conserved role for the gene in testis differentiation in mammals and birds

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Sox9 is required for cartilage formation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Toward understanding SOX9 function in chondrocyte differentiation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Parallel expression of Sox9 and Col2a1 in cells undergoing chondrogenesis.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

SOX9 directly regulates the type-II collagen gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

SOX9 enhances aggrecan gene promoter/enhancer activity and is up-regulated by retinoic acid in a cartilage-derived cell line, TC6.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Chondrocyte-specific enhancer elements in the Col11a2 gene resemble the Col2a1 tissue-specific enhancer.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

The DNA-binding specificity of SOX9 and other SOX proteins.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Tryptophan rotamer distributions in amphipathic peptides at a lipid surface

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

The HMG box of SRY is a calmodulin binding domain.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Exposure of tryptophanyl residues in proteins. Quantitative determination by fluorescence quenching studies

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

DEAE-dextran enhances electroporation of mammalian cells

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

The protein kinase CK2 site (Ser111/112) enhances recognition of the simian virus 40 large T-antigen nuclear localization sequence by importin

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Empirical estimation of protein-induced DNA bending angles: applications to lambda site-specific recombination complexes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Nuclear targeting signal recognition: a key control point in nuclear transport?

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

A correlation between the loss of hydrophobic core packing interactions and protein stability

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Pi-pi interactions: the geometry and energetics of phenylalanine-phenylalanine interactions in proteins

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Aromatic-aromatic interactions and protein stability. Investigation by double-mutant cycles

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Aromatic-aromatic interactions in the zinc finger motif. Analysis of the two-dimensional nuclear magnetic resonance structure of a mutant domain

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Aromatic interactions in homeodomains contribute to the low quantum yield of a conserved, buried tryptophan

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Tests for helix-stabilizing interactions between various nonpolar side chains in alanine-based peptides

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Serine and threonine residues bend alpha-helices in the chi(1) = g(-) conformation.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

A familial mutation in the testis-determining gene SRY shared by both sexes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Characterization of the DNA binding and bending HMG domain of the yeast hypoxic repressor Rox1

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

The energetics of HMG box interactions with DNA. Thermodynamic description of the box from mouse Sox-5 1 1Edited by P. E. Wright

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Expression and subcellular localization of SF-1, SOX9, WT1, and AMH proteins during early human testicular development

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Bending of DNA by gene-regulatory proteins: construction and use of a DNA bending vector

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Hydrogen bonds between short polar side chains and peptide backbone: prevalence in proteins and effects on helix-forming propensities

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M101278200

21 January 2018

Identifiers

10.1074/JBC.M101278200

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11323423%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11323423%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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